Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.

Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.

Item
http://www.wikidata.org/entity/Q36362825
A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures.Integration of genomics and metabolomics for prioritization of rare disease variants: a 2018 literature review.Utility of Population-Level DNA Sequence Data in the Diagnosis of Hereditary Endocrine Disease.Identification of Misclassified ClinVar Variants via Disease Population PrevalenceFunctional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorderThe coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to diseaseAssessment of coding region variants in Kuwaiti population: implications for medical genetics and population genomics
P2860

Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.

Item
http://www.wikidata.org/entity/Q36362825
description
2017 nî lūn-bûn
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2017年の論文
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2017年学术文章
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2017年学术文章
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2017年学术文章
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2017年学术文章
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2017年学术文章
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2017年學術文章
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2017年學術文章
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2017年學術文章
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name
Assessment of the ExAC data se ...... Mendelian pediatric disorders.
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Assessment of the ExAC data se ...... Mendelian pediatric disorders.
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type
label
Assessment of the ExAC data se ...... Mendelian pediatric disorders.
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Assessment of the ExAC data se ...... Mendelian pediatric disorders.
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prefLabel
Assessment of the ExAC data se ...... Mendelian pediatric disorders.
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Assessment of the ExAC data se ...... Mendelian pediatric disorders.
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P1476
P2093
P2860
P2888
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P356
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P478
P50
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Assessment of the ExAC data se ...... Mendelian pediatric disorders.
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P2093
P2860
P2888
P304
P31
P356
P407
P433
P478
P50
P577
P698
P932